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FLASH GENE
Symbol GJA8 contributors: mct/shn - updated : 03-10-2011
HGNC name gap junction protein, alpha 8, 50kDa
HGNC id 4281
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative membrane spanning alpha helices, separating the N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain, involved in pHi sensitivity, but has little influence over single-channel conductance, voltage dependence, or gating kinetics
  • HOMOLOGY
    interspecies ortholog to Gja8, Mus musculus
    ortholog to Gja8, Rattus norvegicus
    ortholog to GJA8, Pan troglodytes
    Homologene
    FAMILY
  • connexin family
  • alpha-type (group II) subfamily
  • CATEGORY structural protein , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a critical role for maintenance of lens transparency (
  • required for normal eye growth (
  • having water channel properties
  • gap junction channels formed by GJA8 are critical for the maintenance of eye lens transparency, which is sensitive to pH and external Ca2+ concentration
  • essential for normal lens development
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • monomer constituent of the connexon (six subunits including GJA3, GJA8, GJB1, GJB2), docking with its counterpart in the neighboring cell to form the gap junction channel
  • major intrinsic protein constituent of lens fiber
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with calmodulin (calmodulin and Ca2+ can cooperate in the gating control of GJA8 hemichannels)
  • directly interacts with MIP in lens
  • binding of Ca2+/CALM1 to the intracellular loop of GJA8 is critical for mediating the Ca2+-dependent inhibition of GJA8 gap junctions in the lens of the eye
  • GJA8 requires an intact PDZ-binding motif and TJP1 for the formation of functional intercellular channels
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CZP1 , CATR
    Susceptibility to schizophrenia
    Variant & Polymorphism other polymorphisms increasing the risk of schizophrenia
    Candidate gene
    Marker
    Therapy target
  • targeted replacement of Cx50 with Cx46 in mice by genetic knock-in corrects defects in cellular differentiation and prevents cataracts, but normal growth is not restored (
  • ANIMAL & CELL MODELS
  • Cx50-null mice exhibited microphthalmia and nuclear cataracts (
  • deletion of Cx50 in mice results in reduced ocular growth and cataracts (